CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.

Journal Article (Journal Article)

Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3,418 individuals followed by TaqMan assays in 2,692 subjects, and we identified two susceptibility loci: CFH rs800292, an established AMD susceptibility polymorphism, and VIPR2 rs3793217 (P = 2.05 × 10-10 and 6.75 × 10-8, respectively). Case-control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 × 10-5 and 5.14 × 10-5, respectively). The CFH rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology.

Full Text

Duke Authors

Cited Authors

  • Hosoda, Y; Yoshikawa, M; Miyake, M; Tabara, Y; Ahn, J; Woo, SJ; Honda, S; Sakurada, Y; Shiragami, C; Nakanishi, H; Oishi, A; Ooto, S; Miki, A; Nagahama Study Group, ; Iida, T; Iijima, H; Nakamura, M; Khor, CC; Wong, TY; Song, K; Park, KH; Yamada, R; Matsuda, F; Tsujikawa, A; Yamashiro, K

Published Date

  • June 12, 2018

Published In

Volume / Issue

  • 115 / 24

Start / End Page

  • 6261 - 6266

PubMed ID

  • 29844195

Pubmed Central ID

  • PMC6004488

Electronic International Standard Serial Number (EISSN)

  • 1091-6490

Digital Object Identifier (DOI)

  • 10.1073/pnas.1802212115


  • eng

Conference Location

  • United States